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Mendeley readers
| Title |
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays
|
|---|---|
| Published in |
BMC Biotechnology, February 2010
|
| DOI | 10.1186/1472-6750-10-10 |
| Pubmed ID | |
| Authors |
Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A Kenna, John H Greinwald, Bruce J Aronow, Heidi L Rehm |
| Abstract |
Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable of resequencing 13 genes mutated in SNHL (GJB2, GJB6, CDH23, KCNE1, KCNQ1, MYO7A, OTOF, PDS, MYO6, SLC26A5, TMIE, TMPRSS3, USH1C). We present results from hearing loss arrays developed in two different research facilities and highlight some of the approaches we adopted to enhance the applicability of resequencing arrays in a clinical setting. |
Mendeley readers
The data shown below were compiled from readership statistics for 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 36 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 13 | 36% |
| Student > Ph. D. Student | 6 | 17% |
| Student > Postgraduate | 5 | 14% |
| Other | 3 | 8% |
| Student > Master | 2 | 6% |
| Other | 5 | 14% |
| Unknown | 2 | 6% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 20 | 56% |
| Medicine and Dentistry | 6 | 17% |
| Biochemistry, Genetics and Molecular Biology | 2 | 6% |
| Engineering | 2 | 6% |
| Social Sciences | 1 | 3% |
| Other | 2 | 6% |
| Unknown | 3 | 8% |